All Phenotypes Aire<tm1Mand> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aire^tm1Mand/Aire^tm1Mand	involves: 129P2/OlaHsd * C57BL/6	MGI:3803198
ht2	Aire^tm1Mand/Aire⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3803197
ht3	Aire^tm1Mand/Aire⁺	NOD.129P2-Aire^tm1Mand	MGI:3803199
ht4	Aire^tm1Mand/Aire^tm1.1Doi	NOD.129-Aire^tm1Mand/Aire^tm1.1Doi	MGI:3803201
cx5	Aire^tm1Mand/Aire⁺ Tg(Ins2-TFRC/OVA)296Wehi/0 Tg(TcraTcrb)425Cbn/0	involves: 129P2/OlaHsd * C57BL/6	MGI:3803203

Allelic Composition	Aire^tm1Mand/Aire^tm1Mand
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aire^tm1Mand mutation (0 available); any Aire mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

salivary gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the salivary glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

lacrimal gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the lacrimal glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

eye inflammation ( J:135154 )

• retinal lymphocytic infiltration occurs in the eye

endocrine/exocrine glands

salivary gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the salivary glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

lacrimal gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the lacrimal glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

vision/eye

lacrimal gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the lacrimal glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

eye inflammation ( J:135154 )

• retinal lymphocytic infiltration occurs in the eye

digestive/alimentary system

salivary gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the salivary glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

Allelic Composition	Aire^tm1Mand/Aire⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aire^tm1Mand mutation (0 available); any Aire mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

salivary gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the salivary glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

lacrimal gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the lacrimal glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

endocrine/exocrine glands

salivary gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the salivary glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

lacrimal gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the lacrimal glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

vision/eye

lacrimal gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the lacrimal glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

digestive/alimentary system

salivary gland inflammation ( J:135154 )

• mice 15 to 25 weeks of age have lymphocytic infiltration of the salivary glands

• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

abnormal CD4-positive, alpha-beta T cell physiology ( J:135154 , J:188686 )

• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62L^lo CD44^hi) (J:135154)

• mutants show an increase in IFN-gamma producing CD4+ T cells within sciatic nerves and the spleen, indicating a Th1 effector response (J:188686)

abnormal chemokine level ( J:188686 )

• chemokines CXCL10, CCL2, and CCL5 are upregulated in sciatic nerves

increased CXCL10 level ( J:188686 )

• CXCL10 is upregulated in sciatic nerves

increased susceptibility to autoimmune diabetes ( J:135154 , J:188686 )

• diabetes mellitus occurs in females at an incidence rate (20%) similar to that observed in the NOD strain with wild-type Aire alleles (J:135154)

increased autoantibody level ( J:188686 )

• presence of autoantibodies in the sciatic nerve; autoantibodies are specific for myelin protein zero (P0)

increased inflammatory response ( J:188686 )

• immune cell (mononuclear) infiltration into sciatic nerves, but not in brain or spinal cord

• while a previous study found that mice either develop diabetes or neuropathy, in this study mice with both diabetes and neuropathy are seen on a rare occasion and they exhibit moderate immune infiltration in the sciatic nerves

• nerve infiltrates frequently consist of CD4+ Th cells and F4/80+ macrophages

• mutants show an increase in IFN-gamma producing CD4+ T cells within sciatic nerves and the spleen, indicating a Th1 effector response

• mutants with spontaneous autoimmune diabetes that do not develop neuropathy do not show immune infiltration in the sciatic nerve

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

thyroid gland inflammation ( J:135154 )

• severe thyroiditis is observed in mice 25 to 30 weeks in age

• some mice have complete obliteration of the thyroid follicles

• 25% of mice have at least half of their thyroid gland effaced

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

chronic pancreas inflammation ( J:135154 )

• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas

insulitis ( J:135154 )

• insulitis occurs in female mice without severe pancreatitis

CNS inflammation ( J:135154 )

• lymphocytic infiltration of the CNS leads to hind limb paralysis by 22 weeks of age in 80% of mice

• mice develop either diabetes or neuropathy but are never observed having both conditions

behavior/neurological

limb grasping ( J:188686 )

• clasping of hind limbs indicates bilateral weakness

paralysis ( J:188686 )

• about 80% of females develop spontaneous autoimmune neuropathy by 22 weeks of age, displaying bilateral weakness of the hind limbs that progresses to severe paralysis affecting all limbs

• diabetic mutants maintained on insulin rarely develop neuropathy

hindlimb paralysis ( J:135154 )

• progressive peripheral neuropathy results in hind limb paralysis by beginning at 17 weeks of age

• over 80% of mice exhibit this neuropathy by 22 weeks of age

• mice develop either diabetes or neuropathy but are never observed having both conditions

nervous system

CNS inflammation ( J:135154 )

• lymphocytic infiltration of the CNS leads to hind limb paralysis by 22 weeks of age in 80% of mice

• mice develop either diabetes or neuropathy but are never observed having both conditions

abnormal nervous system morphology ( J:188686 )

• about 80% of females develop spontaneous autoimmune neuropathy by 22 weeks of age

abnormal sciatic nerve morphology ( J:135154 , J:188686 )

• lymphocytic infiltration occurs in the sciatic nerve of mice that have hind limb paralysis (J:135154)

• immune cell (mononuclear) infiltration into sciatic nerves, but not in brain or spinal cord (J:188686)

• multifocal areas of demyelination in the sciatic nerve (J:188686)

demyelination ( J:188686 )

• multifocal areas of demyelination in the sciatic nerve and demyelination of individual axons are seen

• a decrease in density of myelinated axons is seen in the sciatic nerve of neuropathic mutants

endocrine/exocrine glands

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

thyroid gland inflammation ( J:135154 )

• severe thyroiditis is observed in mice 25 to 30 weeks in age

• some mice have complete obliteration of the thyroid follicles

• 25% of mice have at least half of their thyroid gland effaced

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

chronic pancreas inflammation ( J:135154 )

• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas

insulitis ( J:135154 )

• insulitis occurs in female mice without severe pancreatitis

vision/eye

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

digestive/alimentary system

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

homeostasis/metabolism

abnormal chemokine level ( J:188686 )

• chemokines CXCL10, CCL2, and CCL5 are upregulated in sciatic nerves

increased CXCL10 level ( J:188686 )

• CXCL10 is upregulated in sciatic nerves

hematopoietic system

abnormal CD4-positive, alpha-beta T cell physiology ( J:135154 , J:188686 )

• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62L^lo CD44^hi) (J:135154)

• mutants show an increase in IFN-gamma producing CD4+ T cells within sciatic nerves and the spleen, indicating a Th1 effector response (J:188686)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Guillain-Barre syndrome		DOID:12842	OMIM:139393	J:188686

Allelic Composition	Aire^tm1Mand/Aire^tm1.1Doi
Genetic Background	NOD.129-Aire^tm1Mand/Aire^tm1.1Doi

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aire^tm1.1Doi mutation (2 available); any Aire mutation (52 available)
Aire^tm1Mand mutation (0 available); any Aire mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

weight loss ( J:135154 )

• weight loss is noted in mice starting at 6 weeks of age

immune system

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

stomach inflammation ( J:135154 )

• occurs in mice by 10 weeks of age

thyroid gland inflammation ( J:135154 )

• severe thyroiditis is observed in mice 15 to 25 weeks in age

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

chronic pancreas inflammation ( J:135154 )

• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas

insulitis ( J:135154 )

• mice 25 weeks of age have intra-islet infiltration of lymphocytes

abnormal CD4-positive, alpha-beta T cell physiology ( J:135154 )

• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62L^lo CD44^hi)

uveitis ( J:135154 )

• retinal lymphocytic infiltration occurs in the eye

lung inflammation ( J:135154 )

• lymphocyte infiltrates are found in mice by 10 weeks of age

endocrine/exocrine glands

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

thyroid gland inflammation ( J:135154 )

• severe thyroiditis is observed in mice 15 to 25 weeks in age

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

chronic pancreas inflammation ( J:135154 )

• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas

insulitis ( J:135154 )

• mice 25 weeks of age have intra-islet infiltration of lymphocytes

respiratory system

lung inflammation ( J:135154 )

• lymphocyte infiltrates are found in mice by 10 weeks of age

digestive/alimentary system

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

stomach inflammation ( J:135154 )

• occurs in mice by 10 weeks of age

vision/eye

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

uveitis ( J:135154 )

• retinal lymphocytic infiltration occurs in the eye

hematopoietic system

abnormal CD4-positive, alpha-beta T cell physiology ( J:135154 )

• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62L^lo CD44^hi)

Allelic Composition	Aire^tm1Mand/Aire⁺ Tg(Ins2-TFRC/OVA)296Wehi/0 Tg(TcraTcrb)425Cbn/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aire^tm1Mand mutation (0 available); any Aire mutation (52 available)
Tg(Ins2-TFRC/OVA)296Wehi mutation (1 available)
Tg(TcraTcrb)425Cbn mutation (3 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

abnormal T cell differentiation ( J:135154 )

• negative selection fails to occur of CD 4 T cells bearing the transgenic TCR as evidenced by the normal number of clonotypic T cells found in the thymus and spleen

hematopoietic system

abnormal T cell differentiation ( J:135154 )

• negative selection fails to occur of CD 4 T cells bearing the transgenic TCR as evidenced by the normal number of clonotypic T cells found in the thymus and spleen

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